Page 181 - MEMOCiberer014-ENG

Most relevant scientific articles
• tenorio J, mansilla a, Valencia m, martínez-Glez V, romanelli V, arias p, castreJón n, poletta F, Guillén- naVarro e, GorDo G, mansilla e, García-santiaGo F, González-casaDo i, Vallespín e, palomares m, mori ma, santos-simarro F, García-miñaur s, FernánDez l, mena r, benito-sanz s, Del pozo á, silla Jc, ibañez K, lópez- GranaDos e, martín-truJillo a, montaner D; SOGRI Consortium, Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P . A new overgrowth syndrome is due to mutations in RNF125 . Hum Mutat . 2014 Dec;35(12):1436-41
• Valencia m, caparrós-martin Ja, sirerol-piquer ms, García-VerDuGo Jm, martínez-Glez V, lapunzina p, temtamy s, aGlan m, lunD am, niKKels pG, ruiz-perez Vl, osterGaarD e . Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects . Am J Med Genet A . 2014 May;164A(5):1143-50 .
• Guillén-naVarro e, ballesta-martínez mJ, Valencia m, bueno am, martinez-Glez V, lópez-González V, burny- te b, utKus a, lapunzina p, ruiz-perez Vl . Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta . Am J Med Genet A . 2014 May;164A(5):1136-42 .
Highlights
Institution: Agencia Estatal Consejo Superior de Investigaciones Científicas Contact: Instituto de Investigaciones Biomédicas Alberto Sols · C/ Arturo Duperier, 4 . 28029 Madrid Phone: (+34) 91 585 43 87
Osteogenesis imperfecta (OI) is a genetic condition characterized by bone fragility and recurrent fractures . In 2012 we described for the first time that mutations in BMP1, the gene encoding bone morphogenetic protein 1, are responsible for OI (Martinez-Glez et al Hum Mut 2012) . In 2014 we have reported an additional patient with mutations in BMP1 (Valencia et al ., AJMG 2014) . Functional analysis in dermal fibroblasts demonstrated that the mutation in this patient resulted in decreased protein levels of the two alternatively spliced products of BMP1 and abnormal cleavage of the C-terminal propeptide of type I procollagen . In addition, fluorescence and electron microscopy showed impaired assembly of type I collagen fibrils in the extracellular matrix of cultured fibroblasts derived from two patients indicating that BMP1 is essential for human type I collagen fibrilogenesis . Further to this ongoing mutation screening in our lab identified one Spanish patient with a de novo Ser40Leu heterozygous mutation in IFITM5, a gene associated with OI type V, and another patient with the recurrent c .-14C>T transition in this gene also generated de novo (Guillen-Navarro et al AMJMG 2014) . Patients with OI-V were previously found exclusively with the c .-14C>T change . Interestingly the Ser40Leu patient had none of the typical signs of OI type V and was diagnosed with limb shortening at prenatal stages . This study challenged the lack of allelic and clinical heterogeneity in IFITM5 mutations . Both BMP1 and IFITM5 publications were the product of a collaborative effort between several CIBERER units, a CIBERNED group and international teams . Lastly, in 2014 we collaborated with the U753 CIBERER unit in the description of a novel gene, RNF125, mutated in a new overgrowth syndrome (Tenorio et al Hum Mut 2014) .
www .ciberer .es 181